A rare presentation of a rare disease

A 29 year old woman presented to the gynaecology services with a history of cervical smear cytology and punch biopsy showing human papillomavirus related changes, associated with moderate dyskaryosis. She had undergone laser loop excision biopsy of the transformation zone (LLETZ) two years before for previous abnormal smears. This showed moderate dysplasia in the ectocervical epithelium, but was otherwise unremarkable. A second laser loop biopsy was performed. This was received in the histopathology department in two pieces, 1.5 and 1.2 cm in greatest dimension, respectively. On microscopic examination, focal mild squamous dysplasia was identified in each piece. However, in addition to this numerous eosinophils were seen in the cervical stroma. On close inspection, these were admixed with histiocytic cells, the nuclei of which displayed a degree of atypia, with a convoluted shape (see figs 1 and 2 for low and high power views, respectively). Immunuhistochemistry revealed these cells to be positive both for S100 protein (fig 2) and CD1a (fig 3). A diagnosis of Langerhans cell histiocytosis (LCH) was made.

Figure 1.

Low power view showing S100 protein positive histiocytoid cells in cervical stroma.

Figure 2.

High power view of S100 protein positive histiocytoid cells in cervical stroma.

Figure 3.

High power view of CD1a immunohistochemical stain showing positivity in the histiocytoid cells.

Following this diagnosis, the previous cervical smears were reviewed, but apart from the dyskaryotic squamous cells reported previously, no other abnormal cells were identified. This is not surprising because the Langerhans cells were confined to the cervical stroma, and the overlying epithelium was not ulcerated, and hence it is difficult to see how a cervical smear could sample the tissue affected by LCH.

A review of the world literature by Axiotis and colleagues¹ has revealed only 38 previous cases of LCH, to which four more were added in their report. Cases appeared to fall into four groups, namely: (1) those limited to the genital tract, or (2) associated with genital LCH with subsequent multiorgan involvement, (3) associated with oral or cutaneous LCH with subsequent genital involvement, or (4) associated with diabetes insipidus with subsequent genital and multiorgan LCH.

Most of the references in the literature to genital LCH are related to vulval lesions, such as the case report by Schwartz et al,² with only rare references to cervical involvement, such as the case reported by Issa et al.³

No case has been found in the literature in which the diagnosis of cervical LCH was made as an incidental finding in a LLETZ biopsy, as in our present case.

In summary, our present case is of interest in that it draws attention to a disease with potential systemic importance, which is not only rare in itself, but only very rarely presents with a cervical lesion.